TRANSITION TO YOUNG ADULTHOOD IN ULLRICH-TURNER-SYNDROME - NEURODEVELOPMENTAL CHANGES

Studies describing the neurocognitive profile of Ullrich-Turner syndro me (UTS) have focused primarily on neurodevelopmental changes in child hood and adolescence or in adults with UTS. The objective of the prese nt study was to describe neurodevelopmental changes that occur in UTS females during the transition from adolescence to young-adulthood. The subjects included 99 females with UTS and 89 normal female controls m atched for age and socioeconomic status. Subjects were between the age s of 13 and 21 years. All subjects received a battery of neurocognitiv e tests designed to assess general cognitive ability, academic achieve ment, memory, language, executive function, visual-spatial/perceptual and motor skills, affect recognition, attention, and motor skills. Res ults from our study indicated that females with UTS performed signific antly less well than controls on measures of spatial/perceptual skills , visual-motor integration, affect recognition, visual memory, attenti onal abilities, and executive function, consistent with previous repor ts of cognitive abilities in adolescent UTS females. Moreover, our res ults indicate that decreased performance in some of these areas persis ts through late adolescence and into early adulthood while improvement occurs in other areas. It is possible that catch-up in certain cognit ive deficiencies in UTS females represents a maturational/developmenta l lag, Alternatively, the neurodevelopmental changes that were observe d in UTS females may result from the cumulative effects of estrogen re placement therapy during adolescence. Therapeutic interventions specif ic to the demands of young-adulthood are also discussed. Am. J. Med. G enet. 79:140-147, 1998, (C) 1998 Wiley-Liss, Inc.